Incidental Mutation 'R3689:Txn1'
ID 269660
Institutional Source Beutler Lab
Gene Symbol Txn1
Ensembl Gene ENSMUSG00000028367
Gene Name thioredoxin 1
Synonyms Trx1
MMRRC Submission 040684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3689 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 57943373-57956411 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57950846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 61 (D61G)
Ref Sequence ENSEMBL: ENSMUSP00000030051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030051]
AlphaFold P10639
Predicted Effect probably benign
Transcript: ENSMUST00000030051
AA Change: D61G

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030051
Gene: ENSMUSG00000028367
AA Change: D61G

DomainStartEndE-ValueType
Pfam:DIM1 1 104 6e-8 PFAM
Pfam:Thioredoxin 2 104 4e-34 PFAM
Meta Mutation Damage Score 0.2891 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null mutation die soon after implantation. In vitro, mutant embryos do not hatch, inner cell mass cells fail to proliferate, and trophoblasts do not attach to the feeder layer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A T 13: 68,779,088 (GRCm39) L984Q probably damaging Het
Atg16l1 T C 1: 87,713,626 (GRCm39) V427A probably damaging Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Blm G C 7: 80,162,827 (GRCm39) P175A possibly damaging Het
Bpifb1 A G 2: 154,051,819 (GRCm39) D208G probably benign Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cep162 G A 9: 87,107,747 (GRCm39) Q548* probably null Het
Chchd10 T C 10: 75,771,835 (GRCm39) probably benign Het
Cog3 T C 14: 75,991,878 (GRCm39) M1V probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Erich2 T C 2: 70,371,097 (GRCm39) V419A unknown Het
Fam53c A G 18: 34,903,886 (GRCm39) D386G probably damaging Het
Fgd2 A G 17: 29,597,924 (GRCm39) T620A probably benign Het
G930045G22Rik A T 6: 50,823,535 (GRCm39) noncoding transcript Het
Grpel1 G A 5: 36,626,769 (GRCm39) probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Mtss1 A G 15: 58,825,385 (GRCm39) S272P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
N4bp1 C T 8: 87,587,184 (GRCm39) D585N probably damaging Het
Napb T C 2: 148,544,977 (GRCm39) probably null Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Niban1 A G 1: 151,579,447 (GRCm39) probably null Het
Nms T C 1: 38,986,075 (GRCm39) probably benign Het
Nsun2 A G 13: 69,760,456 (GRCm39) N45D probably damaging Het
Or4c116 T A 2: 88,942,386 (GRCm39) I157L possibly damaging Het
Pak6 C T 2: 118,523,921 (GRCm39) Q359* probably null Het
Pcdhb12 C T 18: 37,569,127 (GRCm39) A91V probably benign Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Plscr1l1 A C 9: 92,234,673 (GRCm39) N60T probably damaging Het
Sec31a T A 5: 100,530,766 (GRCm39) D239V probably damaging Het
Slc13a4 T C 6: 35,245,845 (GRCm39) N600S possibly damaging Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Sprr2j-ps A G 3: 92,326,290 (GRCm39) H55R probably benign Het
Srsf9 A G 5: 115,465,387 (GRCm39) D7G probably benign Het
Stt3a T C 9: 36,670,618 (GRCm39) Y51C probably damaging Het
Taf5 A G 19: 47,067,224 (GRCm39) K519E probably damaging Het
Taf7l A T X: 133,365,074 (GRCm39) I449K probably damaging Het
Tnk1 C A 11: 69,746,425 (GRCm39) D263Y probably damaging Het
Ttc21b T A 2: 66,054,488 (GRCm39) I714F probably benign Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Ugcg T C 4: 59,211,883 (GRCm39) V83A probably benign Het
Ulk3 T C 9: 57,501,077 (GRCm39) V348A probably benign Het
Wdr93 A G 7: 79,421,333 (GRCm39) T409A possibly damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zc3h12c C T 9: 52,027,256 (GRCm39) R721H probably benign Het
Zfp169 A G 13: 48,660,377 (GRCm39) probably benign Het
Other mutations in Txn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02185:Txn1 APN 4 57,950,883 (GRCm39) missense probably benign 0.14
R1720:Txn1 UTSW 4 57,943,922 (GRCm39) missense probably benign 0.10
R7585:Txn1 UTSW 4 57,945,199 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TCTGAGTGTCTAGGACCACACC -3'
(R):5'- GGCGCTTGCTTCATCTCTAG -3'

Sequencing Primer
(F):5'- GTGTCTAGGACCACACCCATAACTG -3'
(R):5'- CAGAACCAGTTCCCAGAGGTTG -3'
Posted On 2015-02-19